Gieldon, Laura

Next-generation panel sequencing identifies [electronic resource] - European journal of endocrinology Feb 2018 - K1-K9 p. digital

Publication Type: Case Reports; Journal Article

1479-683X

10.1530/EJE-17-0714 doi


Adrenal Gland Neoplasms--diagnosis
Adult
Base Sequence
Carcinoma, Neuroendocrine--genetics
Codon, Nonsense
Epinephrine--urine
Female
Genes, Neurofibromatosis 1
Genetic Predisposition to Disease--genetics
Germ-Line Mutation--genetics
High-Throughput Nucleotide Sequencing--methods
Humans
Hypertension
Male
Metanephrine--urine
Middle Aged
Multiple Endocrine Neoplasia Type 2a--genetics
Neurofibromatosis 1--genetics
Normetanephrine--urine
Paraganglioma--genetics
Pedigree
Pheochromocytoma--diagnosis
Prostatic Neoplasms
Thyroid Neoplasms--genetics